Key publications

  1. Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
    BMC Med Genet, 21 (1), 96
    DOI 10.1186/s12881-020-01024-y, PubMed 32381069
  2. Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
    Hum Mutat, 41 (12), 2179-2194
    DOI 10.1002/humu.24127, PubMed 33131181
 
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